Late-Onset EBV Susceptibility and Refractory Pure Red Cell Aplasia Revealing DADA2
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LETTER TO EDITOR
Late-Onset EBV Susceptibility and Refractory Pure Red Cell Aplasia Revealing DADA2 Tom Le Voyer 1 & David Boutboul 2,3 & Albane Ledoux-Pilon 4 & Flore Sicre de Fontbrune 5 & Guilaine Boursier 6 & Sylvain Latour 3 & Guillaume Le Guenno 1 Received: 20 March 2020 / Accepted: 22 June 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
To the Editor Adenosine deaminase 2 deficiency (DADA2) is a primary immunodeficiency caused by autosomal recessive mutations in ADA2 originally described as an autoinflammatory disorder with prominent vascular involvement. Since its initial description in 2014, over 70 disease-associated ADA2 mutations have been reported in about 200 cases [1]. There is substantial phenotypic heterogeneity and disease expression varies between inflammatory vasculopathy, cytopenia including bone marrow failure (BMF), lymphoproliferation, and immunodeficiency. We report the case of a 28-year-old female patient, born from first-degree cousins (Fig. 1). She had past medical history of recurrent upper respiratory tract infections and giardiasis during infancy. She also had viral susceptibility including herpetic gingivostomatitis, recurrent plantar warts, condyloma, and facial herpes zoster during adolescence. First immunological
* David Boutboul [email protected] * Guillaume Le Guenno [email protected] 1
Department of Internal Medicine, Hôpital Estaing, 1 Place Lucie Aubrac 63000 Clermont-Ferrand France
2
Department of Clinical Immunology, Hôpital Saint-Louis- AP-HP, 1 av Claude Vellefaux 75010 Paris France
3
Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, Imagine Institute - Inserm UMR 1163, Paris France
4
Department Pathology, Hôpital Estaing, Clermont-Ferrand France
5
Hematology Stem Cell Transplant Unit, Saint Louis Hospital, APHP, Paris France
6
Department of Medical Genetics, Rare Diseases and Personalized Medicine, University of Montpellier, CEREMAIA, CHU Montpellier, Montpellier France
evaluation performed at 15 years old showed mild lymphopenia, neutropenia, and hypergammaglobulinemia (Table 1). Epstein-Barr virus (EBV) serology was positive for IgG to EBNA and VCA antigens. Mild EBV viremia (4 log on whole blood) was detected. At age 20, ocular migraine appeared; brain MRI showed two T2-weighted signals localized in the midbrain and right basal ganglia (Fig. 2). Two years after, during her first pregnancy, pre-eclampsia was diagnosed complicated by a right lenticular ischemic stroke (Fig. 2). No inflammatory syndrome was noted. She subsequently developed hepatosplenomegaly with enlarged submandibular lymph nodes. Second evaluation at 22 years old found persistent hypergammaglobulinemia and CD4 and CD8 T cell lymphopenia (Table 1). T cell proliferation assays were normal. Double-negative TCR-αß T cells were increased with normal FASL, IL10, and cobalamin levels. Mild chronic EBV viremia was still present. At 24, splenectomy was performed because of painful massive splenomegaly. Splenectomy specimen show
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